CROCC - ciliary rootlet coiled-coil, rootletin Gene

Also Known as ROLT; CROCC1; TAX1BP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9696

About CROCC

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,914,085-16,972,964 (from NCBI)

This gene has 13 transcripts (splice variants), 146 orthologues and 4 paralogues. Ubiquitous expression in skin (RPKM 4.6), spleen (RPKM 3.7) and 25 other tissues.

Summary

Predicted to enable Kinesin binding activity and structural molecule activity. Involved in several processes, including centriole-centriole cohesion; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

CROCC Products (1)

mRNA Protein Name
NM_014675.5 NP_055490.4 rootletin
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
18086858 GOA
Biological Process GO Annotation Evidence References Source
involved in centriole-centriole cohesion IMP
IMP: Inferred from mutant phenotype
24554434 GOA
involved in centrosome cycle IDA
IDA: Inferred from direct assay
16203858 GOA
involved in positive regulation of cilium assembly IMP
IMP: Inferred from mutant phenotype
27623382 GOA
involved in positive regulation of protein localization to cilium IMP
IMP: Inferred from mutant phenotype
27623382 GOA
involved in protein localization IMP
IMP: Inferred from mutant phenotype
18086858 GOA
involved in protein localization to organelle IMP
IMP: Inferred from mutant phenotype
24554434 GOA
Cellular Component GO Annotation Evidence References Source
located in centriole IDA
IDA: Inferred from direct assay
24421332 GOA
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CROCC Protein Structure

Rootletin

Rootletin: Ciliary rootlet component, centrosome cohesion (156 - 335)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2017 a.a.
Protein Preferred Names Protein Names

rootletin

  • Tax1-binding protein 2

Related Diseases

Diseases Alias
Seckel Syndrome
  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism

Primary Autosomal Recessive Microcephaly
  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus CROCC VGNC VGNC:97390
Canis familiaris CROCC VGNC VGNC:54719
Bos taurus CROCC VGNC VGNC:55340
Rattus norvegicus CROCC RGD RGD:1305364
Macaca mulatta CROCC VGNC VGNC:97756
Mus musculus CROCC MGD MGI:3529431
Others CROCC NCBI